ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000425.5(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001356.4(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_080632.2(UPF3B):c.693_694AG[2] (p.Arg233fs) rs1064794254
Single allele

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